Discovery of the effect of a genetic mutation in Crohn's disease

Wednesday, 25 November 2009 17:13

Research news

The genetic causes of IBDs are only very partially understood.

Numerous studies have identified genetic risk factors in relation with the development of  IBDs, but the functional consequences of the mutation of some gene or other on the disease occurrence or development are still very poorly demonstrated. A study of two families whose descendants are developing very early and severe forms of Crohn's disease, has just allowed German and English teams to functionally characterize the effect of mutations found on two genes encoding the interleukin-10 (IL-10R) receptor, a key element of the immune system regulation. These mutations inhibit the ability of the immune system to efficiently monitor  inflammatory reaction, thus inducing bowel hyper inflammation typical in IBDs.  The authors of that study also reported the therapeutic success of a bone marrow graft treatment from one of the patients carrying the mutation, thus identifying cells of hematopoietic origin as the targets of genetic defect and incidentally providing a good  example of “molecular medicine” departing from the bed of the patient to return to it while passing through the researcher bench.

Inflammatory Bowel Disease and mutations affecting the Interleukin-10 Receptor, Erik-Olivier Glocker, et al, publié on line le 4 novembre 2009 - New England Journal of Medecine